Momentum in FTD Research

FTD research is moving quickly, energized by new technologies and disease models. The pace of discovery provides much reason for hope.

With new technology researchers can turn adult stem cells from FTD patients into nerve cells. New brain imaging techniques let us observe the working brain in real time with high resolution graphics. Genetic screening and DNA and RNA mapping can now tell us more about familial FTD. And the latest in molecular biology techniques can introduce FTD gene mutations into animals like the fruit fly or the nematode C. elegans to create models in which to study the biology of FTD. Disease models allow us to ask questions and get answers and test potential new drugs. Clinical and basic biology research help us get closer to making drugs that work for FTD and one day, therapies that will stop this disease in its tracks.

Biomarkers for diagnosis

A biomarker is an indicator of a biological process or a disease process that can be measured objectively. Biomarkers can be proteins or lipids or other biochemical markers that can be measured in blood samples or cerebrospinal fluid. A biomarker can also be a measurement taken from magnetic resonance imaging. Biomarkers can indicate the current status of a patient and some, like gene mutations, can indicate the risk of developing a disease.

There are currently no validated biomarkers that can diagnose FTD, which makes it difficult for doctors to diagnose the disease early and accurately. Several potential imaging, biochemical and gene-based FTD biomarkers now being evaluated in clinical research studies.

iPSC research

Induced pluripotent stem cells, also known as iPSCs, come from adults (not embryos). Essentially, this technology enables a researcher to take a skin cell from a person who has inherited a disease mutation and create a nerve or muscle cell that contains that same known genetic mutation. It is a powerful modeling system for drug development.

A small skin biopsy, taken by a very tiny micropunch, is the source of most iPSCs. The skin biopsy is taken to a petri dish and cultured in special liquid media that allows the fibroblasts to keep growing and multiplying. Fibroblasts normally sit just below the skin surface and help repair small cuts. They are naturally able to replicate themselves. These fibroblasts are then ‘induced’ by special molecules to become a more primitive cell type that can replicate indefinitely and have the potential to become any kind of cell – liver, bone, kidney, muscle or brain.

In a way, it can be called ‘FTD in a dish.’ New research with these FTD stem cell-derived nerve cells has revealed new disease pathways involving RNA, and a model system to test new drugs that will block these cell pathways.

Clinical drug trials

FTD research over the last decade has revealed much about the biology and pathology of the disease. These studies have paved the way for clinical trials that will test drugs designed to stop or slow the progress of nerve cell damage in FTD. Right now we have a handful of FTD clinical trials testing different drugs and with the excitement in the FTD research field that number will only grow in the next few years.